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GeneBe API Showcase

This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.

API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.

Documentation & Advanced Usage

Complete API documentation:docs.genebe.net/docs/api/overview/

Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/

Python client for pandas:pypi.org/project/genebe/

Java CLI for VCF files:github.com/pstawinski/genebe-cli

All tools documented at:docs.genebe.net

API Request Examples for Variant: 5-176908564-T-C (hg38)

Bash / cURL Example

bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=176908564&ref=T&alt=C&genome=hg38&allGenes=true"

API Response

json
{
  "variants": [
    {
      "chr": "5",
      "pos": 176908564,
      "ref": "T",
      "alt": "C",
      "effect": "missense_variant",
      "transcript": "NM_016290.4",
      "consequences": [
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "NM_001199298.2",
          "protein_id": "NP_001186227.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 1945,
          "cdna_end": null,
          "cdna_length": 2574,
          "mane_select": "ENST00000511320.6",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001199298.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "ENST00000511320.6",
          "protein_id": "ENSP00000421926.1",
          "transcript_support_level": 1,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 1945,
          "cdna_end": null,
          "cdna_length": 2574,
          "mane_select": "NM_001199298.2",
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000511320.6"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "ENST00000377227.8",
          "protein_id": "ENSP00000366434.4",
          "transcript_support_level": 1,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 1940,
          "cdna_end": null,
          "cdna_length": 2570,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000377227.8"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": true,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1309A>G",
          "hgvs_p": "p.Thr437Ala",
          "transcript": "ENST00000506128.5",
          "protein_id": "ENSP00000427480.1",
          "transcript_support_level": 1,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": 1309,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": 1360,
          "cdna_end": null,
          "cdna_length": 1945,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000506128.5"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.697A>G",
          "hgvs_p": "p.Thr233Ala",
          "transcript": "ENST00000510698.2",
          "protein_id": "ENSP00000423717.2",
          "transcript_support_level": 1,
          "aa_start": 233,
          "aa_end": null,
          "aa_length": 349,
          "cds_start": 697,
          "cds_end": null,
          "cds_length": 1050,
          "cdna_start": 765,
          "cdna_end": null,
          "cdna_length": 1334,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000510698.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "NM_001199297.2",
          "protein_id": "NP_001186226.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 2185,
          "cdna_end": null,
          "cdna_length": 2815,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001199297.2"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "NM_016290.4",
          "protein_id": "NP_057374.3",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 1974,
          "cdna_end": null,
          "cdna_length": 2604,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_016290.4"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "ENST00000890107.1",
          "protein_id": "ENSP00000560166.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 2069,
          "cdna_end": null,
          "cdna_length": 2676,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890107.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 13,
          "exon_rank_end": null,
          "exon_count": 16,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "ENST00000924857.1",
          "protein_id": "ENSP00000594916.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 2136,
          "cdna_end": null,
          "cdna_length": 2721,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924857.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Thr517Ala",
          "transcript": "ENST00000890109.1",
          "protein_id": "ENSP00000560168.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": 1794,
          "cdna_end": null,
          "cdna_length": 2369,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890109.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1549A>G",
          "hgvs_p": "p.Thr517Ala",
          "transcript": "ENST00000924858.1",
          "protein_id": "ENSP00000594917.1",
          "transcript_support_level": null,
          "aa_start": 517,
          "aa_end": null,
          "aa_length": 633,
          "cds_start": 1549,
          "cds_end": null,
          "cds_length": 1902,
          "cdna_start": 1719,
          "cdna_end": null,
          "cdna_length": 2304,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000924858.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1309A>G",
          "hgvs_p": "p.Thr437Ala",
          "transcript": "NM_001317961.1",
          "protein_id": "NP_001304890.1",
          "transcript_support_level": null,
          "aa_start": 437,
          "aa_end": null,
          "aa_length": 553,
          "cds_start": 1309,
          "cds_end": null,
          "cds_length": 1662,
          "cdna_start": 1573,
          "cdna_end": null,
          "cdna_length": 2203,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "NM_001317961.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 11,
          "exon_rank_end": null,
          "exon_count": 14,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1087A>G",
          "hgvs_p": "p.Thr363Ala",
          "transcript": "ENST00000970269.1",
          "protein_id": "ENSP00000640328.1",
          "transcript_support_level": null,
          "aa_start": 363,
          "aa_end": null,
          "aa_length": 479,
          "cds_start": 1087,
          "cds_end": null,
          "cds_length": 1440,
          "cdna_start": 1174,
          "cdna_end": null,
          "cdna_length": 1741,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000970269.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.964A>G",
          "hgvs_p": "p.Thr322Ala",
          "transcript": "ENST00000890105.1",
          "protein_id": "ENSP00000560164.1",
          "transcript_support_level": null,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": 964,
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          "cdna_start": 1145,
          "cdna_end": null,
          "cdna_length": 1743,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000890105.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
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          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.964A>G",
          "hgvs_p": "p.Thr322Ala",
          "transcript": "ENST00000890106.1",
          "protein_id": "ENSP00000560165.1",
          "transcript_support_level": null,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": 964,
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          "cds_length": 1317,
          "cdna_start": 1102,
          "cdna_end": null,
          "cdna_length": 4511,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890106.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.964A>G",
          "hgvs_p": "p.Thr322Ala",
          "transcript": "ENST00000890108.1",
          "protein_id": "ENSP00000560167.1",
          "transcript_support_level": null,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": 964,
          "cds_end": null,
          "cds_length": 1317,
          "cdna_start": 1213,
          "cdna_end": null,
          "cdna_length": 1820,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890108.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 10,
          "exon_rank_end": null,
          "exon_count": 13,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.964A>G",
          "hgvs_p": "p.Thr322Ala",
          "transcript": "ENST00000890110.1",
          "protein_id": "ENSP00000560169.1",
          "transcript_support_level": null,
          "aa_start": 322,
          "aa_end": null,
          "aa_length": 438,
          "cds_start": 964,
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          "cds_length": 1317,
          "cdna_start": 1137,
          "cdna_end": null,
          "cdna_length": 1736,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "ENST00000890110.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 8,
          "exon_rank_end": null,
          "exon_count": 11,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.706A>G",
          "hgvs_p": "p.Thr236Ala",
          "transcript": "ENST00000970268.1",
          "protein_id": "ENSP00000640327.1",
          "transcript_support_level": null,
          "aa_start": 236,
          "aa_end": null,
          "aa_length": 352,
          "cds_start": 706,
          "cds_end": null,
          "cds_length": 1059,
          "cdna_start": 821,
          "cdna_end": null,
          "cdna_length": 1406,
          "mane_select": null,
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          "biotype": "protein_coding",
          "feature": "ENST00000970268.1"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "XM_005265930.3",
          "protein_id": "XP_005265987.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
          "cds_end": null,
          "cds_length": 2160,
          "cdna_start": 2071,
          "cdna_end": null,
          "cdna_length": 2701,
          "mane_select": null,
          "mane_plus": null,
          "biotype": "protein_coding",
          "feature": "XM_005265930.3"
        },
        {
          "aa_ref": "T",
          "aa_alt": "A",
          "canonical": false,
          "protein_coding": true,
          "strand": false,
          "consequences": [
            "missense_variant"
          ],
          "exon_rank": 12,
          "exon_rank_end": null,
          "exon_count": 15,
          "intron_rank": null,
          "intron_rank_end": null,
          "gene_symbol": "UIMC1",
          "gene_hgnc_id": 30298,
          "hgvs_c": "c.1807A>G",
          "hgvs_p": "p.Thr603Ala",
          "transcript": "XM_006714871.3",
          "protein_id": "XP_006714934.1",
          "transcript_support_level": null,
          "aa_start": 603,
          "aa_end": null,
          "aa_length": 719,
          "cds_start": 1807,
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      "clinvar_review_status": "",
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}
For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.